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1.
Orphanet J Rare Dis ; 19(1): 113, 2024 Mar 12.
Artigo em Inglês | MEDLINE | ID: mdl-38475910

RESUMO

BACKGROUND: Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transmission at the motor endplate. Mutations in the collagen-like tail subunit gene (COLQ) of acetylcholinesterase are responsible for recessive forms of synaptic congenital myasthenic syndromes with end plate acetylcholinesterase deficiency. Clinical presentation includes ptosis, ophthalmoparesis, and progressive weakness with onset at birth or early infancy. METHODS: We followed 26 patients with COLQ-CMS over a mean period of 9 years (ranging from 3 to 213 months) and reported their clinical features, electrophysiologic findings, genetic characteristics, and therapeutic management. RESULTS: In our population, the onset of symptoms ranged from birth to 15 years. Delayed developmental motor milestones were detected in 13 patients (∼ 52%), and the most common presenting signs were ptosis, ophthalmoparesis, and limb weakness. Sluggish pupils were seen in 8 (∼ 30%) patients. All patients who underwent electrophysiologic study showed a significant decremental response (> 10%) following low-frequency repetitive nerve stimulation. Moreover, double compound muscle action potential was evident in 18 patients (∼ 75%). We detected 14 variants (eight novel variants), including six missense, three frameshift, three nonsense, one synonymous and one copy number variation (CNV), in the COLQ gene. There was no benefit from esterase inhibitor treatment, while treatment with ephedrine and salbutamol was objectively efficient in all cases. CONCLUSION: Despite the rarity of the disease, our findings provide valuable information for understanding the clinical and electrophysiological features as well as the genetic characterization and response to the treatment of COLQ-CMS.


Assuntos
Síndromes Miastênicas Congênitas , Oftalmoplegia , Recém-Nascido , Humanos , Síndromes Miastênicas Congênitas/genética , Acetilcolinesterase/genética , Acetilcolinesterase/uso terapêutico , Irã (Geográfico) , Variações do Número de Cópias de DNA , Proteínas Musculares/genética , Mutação , Colágeno/genética , Colágeno/uso terapêutico
2.
Stroke Res Treat ; 2022: 8955660, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35083032

RESUMO

INTRODUCTION: Vitamin D insufficiency is highly prevalent and is a negative predictor for survival in ischemic stroke patients. We evaluated the effect of a high dose of vitamin D3 on the Neuron-Specific Enolase (NSE) level, National Institute of Health Stroke Scale (NIHSS), and Barthel Index (BI) scoring system in moderate ischemic stroke patients. METHODS: This prospective, double-blind, randomized clinical trial (RCT) study was conducted from April 2020 to March 2021. Patients with moderate ischemic stroke (NIHSS 5 to 15) who had vitamin D deficiency (serum 25-OH vitamin D ≤30 ng/mL) were recruited and randomized into intervention and control groups. Subjects in the intervention group received a single dose, intramuscular (IM) injection of 600000 international unit (IU) vitamin D3, in addition to the standard treatment. NSE level and NIHSS were evaluated at baseline and 48 hours after the intervention. The BI was monitored three months after discharge. RESULTS: During the study period, 570 patients were assessed; finally, forty-one patients completed the study. Except for the age which was higher in the control group (p = 0.04), there were no statistically significant differences in other baseline characteristics between the two groups. After 48 hours, the NIHSS score was significantly lower in the intervention group (median 8 vs. 6.5, p = 0.008 in the control and intervention groups, respectively), but there was no significant difference in the NSE level (p = 0.80). Three months after discharge, the BI was significantly higher in the intervention group (median 8 vs. 9, p = 0.03 in the control and intervention groups, respectively). CONCLUSIONS: Administration of a single 600000 IU of vitamin D3 could have neuroprotective effects in patients with moderate ischemic stroke, according to its significantly positive effects on functional clinical outcomes (NIHSS and BI), but this effect on the biomarker related to neural damage (NSE) was not significant.

3.
Mult Scler Relat Disord ; 56: 103235, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34678703

RESUMO

BACKGROUND: Multiple sclerosis (MS) is a chronic immune-mediated demyelinating disease. The prevalence and incidence of MS in Iran is high and is rising over time. This study was conducted to compare the demographic, clinical features and MRI findings of MS patients with history of the disease in the first-degree family members (fMS) with sporadic MS patients (sMS) to determine the importance of genetic or non-genetic factors in the development of the disease and its effect in diagnostic and therapeutic modalities. METHODS: Among the 185 patients admitted to the study, 62 were fMS patients and 123 were sMS patients. All patients underwent clinical examination and data was gathered on age, sex, age of onset, symptoms, number of attacks, disease course, family history, disease-modifying drugs, and other accompanying diseases as well as MRI findings and EDSS scores. RESULTS: In this study, we demonstrated that the frequency of plaques in the periventricular area was significantly higher in sMS patients (97.56% vs 88.71%, p = 0.01) while the callosal plaques were more common in fMS patients (62.9% vs 47.97%, p = 0.05) which was statistically borderline and nonsignificant. In other evaluated parameters, no significant difference was observed. CONCLUSION: In our study, no significant difference was observed between the demographic and clinical characteristics of fMS and sMS patients, while there was a significant difference between the two groups in MRI findings.


Assuntos
Esclerose Múltipla , Progressão da Doença , Família , Humanos , Irã (Geográfico)/epidemiologia , Imageamento por Ressonância Magnética , Esclerose Múltipla/diagnóstico por imagem , Esclerose Múltipla/epidemiologia , Esclerose Múltipla/genética
4.
J Mol Neurosci ; 71(10): 2053-2059, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33763841

RESUMO

Migraine is a complex disabling condition which is associated with dysregulation of several pathways particularly those being associated with immune responses. In order to assess contribution of protein inhibitor of activated STAT (PIAS) in the pathogenesis of migraine, we quantified expression levels of PIAS1-PIAS4 genes in the circulation of patients with migraine compared with controls. Expression of PIAS1 was substantially lower in total migraineurs compared with controls (ratio of mean expressions (RME) = 0.18, SE = 0.29, P value < 0.001) and in both male and female migraineurs compared with sex-matched controls. Expression of PIAS2 was lower in migraineurs without aura compared with controls (RME = 0.64, SE = 0.31, P value = 0.04) and in male subgroup of these patients compared with male controls (RME = 0.60, SE = 0.22, P value < 0.001). In migraineurs with aura, downregulation of PIAS2 was only observed among male subgroups (RME = 0.37, SE = 0.49, P value = 0.01). PIAS3 was downregulated in total male migraineurs (RME = 0.52, SE = 0.43, P value = 0.04) and in male migraineurs with aura (RME = 0.49, SE = 0.45, P value = 0.03) compared with male controls. Finally, PIAS4 was upregulated in total migraineurs (RME = 3.78, SE = 0. 34, P value < 0.001), female migraineurs (RME = 5.26, SE = 0.36, P value < 0.001), migraineurs with aura (RME = 4.24, SE = 0.42, P value < 0.001), female migraineurs with aura (RME = 6.13, SE = 0.47, P value < 0.001), migraineurs without aura (RME = 3.33, SE = 0.38, P value < 0.001), and female migraineurs without aura (RME = 4.47, SE = 0.41, P value < 0.001) compared with the corresponding controls. The present study suggests contribution of PIAS genes in the pathogenesis of migraine and warrants future studies to clarify the functional routes of their contribution.


Assuntos
Enxaqueca com Aura/metabolismo , Proteínas Inibidoras de STAT Ativados/metabolismo , Proteínas Modificadoras Pequenas Relacionadas à Ubiquitina/metabolismo , Adulto , Regulação para Baixo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Enxaqueca com Aura/genética , Proteínas Inibidoras de STAT Ativados/genética , Proteínas Modificadoras Pequenas Relacionadas à Ubiquitina/genética
5.
J Neurovirol ; 27(1): 86-93, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33417193

RESUMO

The COVID-19 pandemic has infected more than 22 million people worldwide. Although much has been learned about COVID-19, we do not know much about its neurological features and their outcome. This observational study was conducted on the patients of Imam Hossein Hospital, and 361 adult patients (214 males) with confirmed diagnosis of COVID-19 from March 5, 2020 to April 3, 2020, were enrolled. Data was gathered on age, sex, comorbidities, initial symptoms, symptoms during the disease course, neurological symptoms, and outcome. The mean age of the patients was 61.90 ± 16.76 years. The most common initial symptoms were cough, fever, and dyspnea. In 21 patients (5.8%), the initial symptom was neurological. History of dementia was associated with severe COVID-19 disease (odds ratio = 1.28). During the course of the disease, 186 patients (51.52%) had at least one neurological symptom, the most common being headache (109 [30.2%]), followed by anosmia/ageusia (69, [19.1%]), and dizziness (54, [15%]). Also, 31 patients had neurological complications (8.58%). Anosmia, ageusia, dizziness, and headache were associated with favorable outcome (P < 0.001), while altered mental status and hemiparesis were associated with poor outcome. The mortality rate of patients who had neurological complications was more than twice than that of patients without neurological complication (P = 0.008). Almost half of the patients experienced at least one neurological symptom, which may be the initial presentation of COVID-19. Dementia appears to be associated with severe COVID-19. Mortality was higher in patients with neurological complications, and these patients needed more intensive care.


Assuntos
COVID-19/complicações , Demência/complicações , Dispneia/complicações , Cefaleia/complicações , Paresia/complicações , SARS-CoV-2/patogenicidade , Adulto , Idoso , Idoso de 80 Anos ou mais , Ageusia/complicações , Ageusia/diagnóstico , Ageusia/mortalidade , Ageusia/virologia , Anosmia/complicações , Anosmia/diagnóstico , Anosmia/mortalidade , Anosmia/virologia , COVID-19/diagnóstico , COVID-19/mortalidade , COVID-19/virologia , Tosse/complicações , Tosse/diagnóstico , Tosse/mortalidade , Tosse/virologia , Demência/diagnóstico , Demência/mortalidade , Demência/virologia , Dispneia/diagnóstico , Dispneia/mortalidade , Dispneia/virologia , Feminino , Febre/complicações , Febre/diagnóstico , Febre/mortalidade , Febre/virologia , Cefaleia/diagnóstico , Cefaleia/mortalidade , Cefaleia/virologia , Humanos , Masculino , Pessoa de Meia-Idade , Paresia/diagnóstico , Paresia/mortalidade , Paresia/virologia , Estudos Retrospectivos , Índice de Gravidade de Doença , Análise de Sobrevida
6.
Epilepsy Behav ; 114(Pt A): 107457, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32994073

RESUMO

INTRODUCTION: Major depression is common among people with epilepsy (PWE), but it is underdiagnosed. The aim of the present study was to assess the reliability and validity of the Persian version of the Neurological Disorders Depression Inventory for Epilepsy (P-NDDI-E) as a screening tool for major depression in patients with epilepsy. METHOD: A total of 210 patients suffering from epilepsy have been assessed using the NDDI-E and the Beck Depression Inventory-II (BDI-II) with no difficulty in understanding or answering the Persian version of the questionnaire. Patients identified as depressed under BDI-II underwent a psychiatric evaluation to confirm depression according to 10th revision of the International Statistical Classification of Diseases and Related Health Problems (ICD) criteria. RESULT: According to the BDI-II and the ICD-10 criteria, major depression was diagnosed in 75 patients (32% men, 68% women). Cronbach's α coefficient was 0.826, suggesting a very good internal consistency. The receiver operating characteristic analysis showed an area under the curve of 0.90 (95% confidence interval [CI] = 0.86-0.94, standard error [SE]: 0.02, p < 0.001). A cutoff of ≥14 resulted in an 83% sensitivity, an 80% specificity, a 70.1% positive predictive value, and an 88.6% negative predictive value. A significant and positive correlation between the P-NDDI-E and the BDI-II was shown (Spearman's ρ = 0.604, p < 0.001). DISCUSSION: The P-NDDI-E could be used as a reliable and valid instrument in detecting major depression in PWE.


Assuntos
Transtorno Depressivo Maior , Epilepsia , Depressão/diagnóstico , Depressão/etiologia , Transtorno Depressivo Maior/complicações , Transtorno Depressivo Maior/diagnóstico , Epilepsia/complicações , Epilepsia/diagnóstico , Feminino , Humanos , Masculino , Escalas de Graduação Psiquiátrica , Psicometria , Reprodutibilidade dos Testes
7.
Epilepsy Behav ; 114(Pt A): 107635, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33309236

RESUMO

BACKGROUND: Sleep disturbance is a frequent finding in patients with epilepsy. As evaluation of sleep disorders and quality of sleep in patients with epilepsy may provide better management of these patients, we aimed to assess the prevalence of common sleep disorders in patients with epilepsy. METHODS: Patients with epilepsy referred to an outpatient epilepsy clinic in Tehran during one year were included. Validated Persian questionnaires were used by an interviewer to assess Excessive daytime sleepiness (EDS), Restless leg syndrome (RLS), and insomnia. Also, patients' demographic features and clinical seizure-related characteristics were recorded. RESULTS: Seventy patients (35 males) aged between 18 and 75 were enrolled. Among patients, 61.4, 35.7, and 28.6% suffered from insomnia, EDS, and RLS, respectively (mild to severe). When considering seizure characteristics, there was no significant correlation between either seizure frequency or its type and the prevalence of sleep disturbance (although sleep disturbance was more common among patients with higher seizure frequency and patients with generalized seizure). Interestingly, age had a positive correlation with EDS. CONCLUSION: This study showed that sleep disturbance is a common finding in patients with epilepsy, which may become severe in some cases. Taking this into consideration, we suggest that routine evaluation of sleep disorders may help physicians to boost patients' sleep quality.


Assuntos
Epilepsia , Transtornos do Sono-Vigília , Adolescente , Adulto , Idoso , Estudos Transversais , Epilepsia/complicações , Epilepsia/epidemiologia , Humanos , Irã (Geográfico)/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Transtornos do Sono-Vigília/epidemiologia , Transtornos do Sono-Vigília/etiologia , Inquéritos e Questionários , Adulto Jovem
8.
J Mol Neurosci ; 71(6): 1197-1204, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33180269

RESUMO

Migraine is a prevalent disorder in humans and represents one of the top 10 causes of years lived with disability. Several genetic and environmental factors are involved in the pathobiology of migraine. A number of studies have underscored the role of dysregulated immune reactions. We compared the expression levels IL-2, IL-4, CXCL8, IL-17, IFN-γ, TGF-ß and TNF-α cytokines in blood specimens of patients with migraine and those of healthy persons to identify any possible dysregulation in their expression and to propose mechanisms for this disorder. Expression of INF-γ was suggestively higher in migraine cases than in healthy individuals (posterior beta = 0.35, adjusted P value = 0.017). In addition, expression of this cytokine was lower in female subjects than in male subjects (posterior beta = -0.712, adjusted P value = 0.012). Expression of IL-4, TGF-ß and TNF-α was also higher in cases compared with controls (posterior beta = 1.34, adjusted P value = 0.04; posterior beta = 0.849, adjusted P value = 0.036; posterior beta = 0.451, adjusted P value = 0.042, respectively). On the other hand, CXCL8 expression was lower in migraine cases than in controls (posterior beta = -0.78, adjusted P value = 0.039). Expression levels of IL-1B, IL-17 and IL-2 were not meaningfully different between cases and controls. The current study highlights the dysregulation of cytokine-coding genes in the blood of patients with migraine.


Assuntos
Interferon gama/genética , Interleucina-8/genética , Interleucinas/genética , Enxaqueca com Aura/genética , Enxaqueca sem Aura/genética , Fator de Crescimento Transformador beta/genética , Fator de Necrose Tumoral alfa/genética , Adulto , Feminino , Humanos , Interferon gama/metabolismo , Interleucina-8/metabolismo , Interleucinas/metabolismo , Masculino , Pessoa de Meia-Idade , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Fator de Crescimento Transformador beta/metabolismo , Fator de Necrose Tumoral alfa/metabolismo
9.
J Mol Neurosci ; 70(6): 959-961, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32040826

RESUMO

Hereditary spastic paraplegia (HSP) includes a number of inherited disorders which are characterized by stiffness in the lower extremities and progressive gait disturbance. Mutations in terms of spastic gait genes (SPGs) are responsible for occurrence of different types of HPS with autosomal recessive, X-linked recessive, and autosomal dominant modes of inheritance. In the current case report, we identified a mutation in SPG11 gene in a female patient with progressive stiffness of lower extremities and atrophy of corpus callosum and the "lynx ear" sign in brain MRI. Whole exome sequencing (WES) revealed a homozygote frameshift deletion variant in SPG11 gene (NM001160227: exon 28: c.4746delT, p.N1583Tfs*23). This variant is a null variant classified as a pathogenic variant (PVS1) according to ACMG standards and guidelines. The frequency of this variant in 1000G, ExAC, and Iranome databases was 0. This study shows the role of WES in the identification of disease-causing mutations in a disease such as HSP which can be caused by diverse mutations in several genes.


Assuntos
Mutação da Fase de Leitura , Proteínas/genética , Paraplegia Espástica Hereditária/genética , Encéfalo/diagnóstico por imagem , Feminino , Humanos , Paraplegia Espástica Hereditária/diagnóstico por imagem , Paraplegia Espástica Hereditária/patologia , Adulto Jovem
10.
J Family Med Prim Care ; 8(3): 950-954, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31041231

RESUMO

BACKGROUND: Migraine is a common disease with neurovascular nature, which is commonly prevalent in the general population. Due to the significant prevalence of migraine and its long-term complications, it is necessary to pay attention to its exacerbating factors. Therefore, the aim of this study was to evaluate the frequency distribution of dyslipidemia in patients with migraine compared with control group. MATERIALS AND METHODS: This is a case-control study, in which 50 patients with migraine (with aura and without aura) were confirmed by the criteria of International Headache Society. Migraineurs and control group (n = 50) were selected from among patients who referred to the Neurology Clinic of Imam Hossein Hospital. The levels of total cholesterol, triglyceride, low-density lipoprotein (LDL), and high-density lipoprotein (HDL) cholesterol were measured in both the groups. SPSS software (version 21) was used to analyze the data. RESULTS: The findings showed that among migraineurs, 21 patients (42%) revealed high levels of cholesterol and 22 revealed high levels of LDL (44%); whereas among subjects without migraine, 12 subjects (24%) exhibited high levels of cholesterol and 12 (24%) high levels of LDL, where a significant correlation between the two groups was achieved. CONCLUSION: The present results showed that migraine is associated with higher level of cholesterol and LDL when compared with the control group, where a significant relationship was found.

11.
Electron Physician ; 10(5): 6843-6852, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29997770

RESUMO

BACKGROUND AND AIM: Epilepsy is a common neurological disorder in pregnancy, which is associated with increased maternal and fetal adverse outcomes. This study aimed to explore the reproductive healthcare needs of women with epilepsy before, during and after childbirth. METHODS: This was a qualitative study using a content analysis method. The study population was marital women with epilepsy in reproductive age (15-45 years) referred to Imam Hossein Hospital, Tehran, Iran. Participants were 16 women chosen using purposive sampling with the consideration of maximum variation in sampling. Semi-structured interviews were held with the participants until data saturation was reached. The data were analyzed using the content analysis method. The MAXQDA software, version 2010, was used for the management of data. RESULTS: The data analysis led to the development of two categories. The first one is named 'resilience against threats to safe pregnancy' and has the following subcategories: (1) real physical complications and perceived (mental) conditions due to unwanted pregnancies, (2) the predisposing factors of anxiety related to safe pregnancy, (3) perceived consequences of pregnancy', and (4) the approach to encounter perceived consequences of pregnancy. The second category is called 'adverse experiences under inefficient supportive systems' and has the following subcategories: (1) the insufficiency of reproductive healthcare services for women with epilepsy, (2) doubt about the advantages and disadvantages of breastfeeding, (3) stigma as a block to the treatment of the postpartum depression, and (4) playing the motherhood role under the shadow of self-esteem to lack of self-esteem. CONCLUSION: In the prenatal, natal and postnatal duration, because of supportive system disruption and not receiving proper consultation, participants were often worried about not being able to get favorable conditions for safe pregnancy and controlling process of their pregnancy. Therefore, they often experienced unwanted pregnancy. They were also concerned about the adverse fetal outcomes. In postpartum period, they often experienced postpartum depression and were very doubtful about breastfeeding.

12.
Iran J Pharm Res ; 17(2): 783-789, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29881434

RESUMO

Patients suffering from headache, particularly migraine type, are among the most dissatisfied patients. The aim of this study was comparing the efficacy of pregabalin with valproate sodium, in preventing migraine headache. In a randomized, double-blinded study, adult patients eligible for prophylactic treatment (i.e., patients with 4-15 attacks per month in last two months) were recruited. Patients' demographic data, duration of symptoms, headache frequency (attacks per month) and intensity (based on visual analogue scale) and also drugs used to relief headache were recorded. The patients were randomly assigned to two groups; valproate sodium (200 mg two times daily) and pregabalin (50 mg two times daily). The patients were examined by neurology specialist monthly for three months and the related data were recorded. The Data were analyzed using SPSS version 21, with related statistical tests. Total number of 140 patients with recurrent migraine were entered into the study. Sixty-nine patients were assigned to group A and 71 to group B by the randomizing table. Inter-group analysis of data in two arms of the study showed that two medications were equally effective except that pregabalin was not significantly effective in reducing number of attacks during first month of therapy compared to baseline. This differences were not significant at second and third month of the study. Our study showed that pregabalin, has comparable efficacy with valproate sodium in reducing migraine frequency, intensity, and duration of attacks and could be an alternative for migraine prophylaxis.

13.
Clin Neuropharmacol ; 41(3): 94-97, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29746282

RESUMO

OBJECTIVES: To evaluate the prophylactic effects of atorvastatin on frequency, intensity, and duration of migraine attacks compared with sodium valproate. METHODS: In this randomized, double-blind, single-center controlled trial, patients with 6 to 15 migraine attacks per month, which were candidates of preventive treatment, were recruited. The patients were randomly allocated into 2 groups. The first group (A) received atorvastatin 40 mg daily, and the second group (B) received sodium valproate 500 mg daily. All patients were visited each month and followed up for 3 months. The characteristics of migraine headaches including frequency, intensity, and duration of attacks were recorded, as well as the number of analgesics taken per each attack and probable adverse effects. RESULTS: From 100 patients enrolled in the study, 18 cases were excluded owing to adverse effects (2 cases) or lost to follow-up (16 cases). From 82 patients who completed the trial, 46 and 36 were in group A (atorvastatin) and group B (sodium valproate), respectively. Mean age of the patients was not significantly different in the 2 arms of the study (33.56 ± 8.51 in group A and 33.25 ± 9.91 years in group B, P = 0.877). Number, duration, and intensity of attacks and number of analgesics taken during attacks decreased significantly in both groups in monthly follow-ups. However, there was no statistically significant difference between 2 arms of the study in terms of attenuation in the characteristics of migraine attacks. On the other hand, patients in group A suffered fewer adverse effects compared with group B. CONCLUSIONS: This study indicates that atorvastatin could be an alternative for sodium valproate in migraine prophylaxis with comparable efficacy and fewer adverse effects. Multicenter studies with larger sample size are recommended.


Assuntos
Atorvastatina/uso terapêutico , Inibidores Enzimáticos/uso terapêutico , Transtornos de Enxaqueca/prevenção & controle , Ácido Valproico/uso terapêutico , Adolescente , Adulto , Anti-Hipertensivos/efeitos adversos , Relação Dose-Resposta a Droga , Método Duplo-Cego , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Feminino , Seguimentos , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/efeitos adversos , Masculino , Pessoa de Meia-Idade , Transtornos de Enxaqueca/induzido quimicamente , Propranolol/efeitos adversos , Adulto Jovem
14.
J Exerc Rehabil ; 14(6): 1067-1073, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30656171

RESUMO

Carpal tunnel syndrome (CTS) is one of the reasons for labor abandonment due to inability and pain. The aim of this study was to evaluate the effectiveness of gabapentin and exercise training in the treatment of CTS and compare their effects. This single-blind clinical trial was conducted on patients referred to the Imam Hossein hospital's electrodiagnostic (EDX) unit. The patients randomly assigned into four groups: using nocturnal splint as an approved treatment in the control group; taking 300-mg gabapentin per night and using nocturnal splint; nerve and tendon gliding exercises and using nocturnal splint; and taking 300-mg gabapentin per night, performing same exercise as group 3 and using nocturnal splint. At baseline, four indicators were assessed in all patients, including the Boston carpal tunnel questionnaire, visual analogue scale (VAS), pinch and grip strength of the affected hand. One month after the beginning of intervention, participants were reassessed and compared for each of the four indicators. Using nocturnal splint along with exercise and gabapentin significantly improved VAS, pinch and grip strength in moderate CTS compared to control group that only used nocturnal splint. However in mild CTS, grip strength was not significantly higher compared to control group (P=0.048). Results of this study showed that use of splint alone in mild CTS is an appropriate and sufficient treatment; however, in moderate CTS, receiving gabapentin along with exercise and splinting showed better treatment results compared to splinting alone.

15.
J Clin Diagn Res ; 10(3): NC01-4, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27134906

RESUMO

INTRODUCTION: Topiramate, a sulfa-derivative monosaccharide, is an antiepileptic drug which is administered in the control of migraine. It is reported to cause various ocular side effects such as visual field defect and myopic shift. To investigate the alterations in refractive error, properties of the cornea and changes in the anterior chamber in patients that receive Topiramate for migraine control. MATERIALS AND METHODS: This is a hospital-based, non-interventional, observational study that is conducted at Imam Hossein Hospital, affiliated to Shahid Beheshti University of Medical Sciences, Department of Neurology, in collaboration with the department of Ophthalmology. Thirty three consecutive patients with the diagnosis of migraine that were candidate for Topiramate therapy were recruited. Patients with history of ocular trauma or surgery, keratoconus, glaucoma, congenital ocular malformations and any history of unexplained visual loss were excluded. After thorough ophthalmic examination, all the patients underwent central corneal thickness (CCT) measurement, and Pentacam imaging (Scheimpflug camera) at the baseline. Various parameters were extracted and used for analysis. Anterior chamber volume (ACV), anterior chamber depth (ACD), and anterior chamber angle (ACA) measurement was performed. These measurements were repeated on day 30(th) and 90(th) after the initiation of Topiramate therapy. According to the normality tests, parameters with normal distribution were analysed using the repeated measures test and the remaining parameters (with non-normal distribution) were analysed using the non-parametric k-sample test. A p-value< 0.05 was considered statistically significant, according to Bonferroni post hoc correction. RESULTS: There were 66 eyes of 33 patients under the diagnosis of migrainous headache, that Topiramate was initiated for headache control, included in the study. The mean value of refractive error had a statistically significant myopic change, from -0.23 diopters (D) at the baseline to -0.61 D at the 90(th) day of follow-up period (p-value < 0.001). Mean CCT was 531.43 µm at the baseline and increased to 534.72 µm at the 30(th) day, and 537.51 µm at the 90(th) day after the administration of Topiramate (p-value=0.001). Mean value of other parameters, ACV, ACD, and ACA, did not reveal statistically significant change. CONCLUSION: Myopic shift and gradually increasing CCT in the patients after Topiramate administration should be considered before any refractive surgery. We found no gradual change in the anterior chamber and angle parameters in our patients in the 90 days of follow up. More studies with a longer duration of follow-up are needed to elucidate dose-dependent ocular manifestations.

16.
Eur J Med Genet ; 59(2): 65-9, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26773575

RESUMO

Wolfram syndrome is one of the rare autosomal recessive, progressive, neurodegenerative disorders, characterized by diabetes mellitus and optic atrophy. Several other features are observed in patients including deafness, ataxia, and peripheral neuropathy. A gene called WFS1 is identified on chromosome 4p, responsible for Wolfram syndrome. We investigated a family consisted of parents and 8 children, which 5 of them have been diagnosed for Wolfram syndrome. WFS1 gene in all family members was sequenced for causative mutations. A mutation (c.376G>A, p.A126T) was found in all affected members in homozygous state and in both parents in heterozygous state. The bioinformatics analysis showed the deleterious effects of this nucleotide change on the structure and function of the protein product. As all of the patients in the family showed the homozygote mutation, and parents were both heterozygote, this mutation is probably the cause of the disease. We identified this mutation in homozygous state for the first time as Wolfram syndrome causation. We also showed that this mutation probably doesn't cause deafness in affected individuals.


Assuntos
Proteínas de Membrana/genética , Síndrome de Wolfram/genética , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Proteínas de Membrana/química , Proteínas de Membrana/metabolismo , Linhagem , Mutação Puntual , Adulto Jovem
17.
Iran Red Crescent Med J ; 18(9): e23768, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28144450

RESUMO

BACKGROUND: Migraine is one of the most debilitating medical conditions and has a high socioeconomic burden. As conventional therapeutic methods do not entirely alleviate the symptoms, new alternatives are being considered. OBJECTIVES: This study evaluates the efficacy and safety of zonisamide compared with sodium valproate in the management of migraine headaches. PATIENTS AND METHODS: In the current double-blind, parallel, randomized, controlled trial, 96 patients with a migraine diagnosis based on the international headache society (HIS) criteria were selected. They were divided randomly into two groups; the case group was given zonisamide, and sodium valproate was given to a control group. In addition to the side effects of the drugs, the severity, duration, and frequency of migraine attacks were evaluated at baseline and at three months. RESULTS: The 96 selected patients were divided randomly into two treatment groups (zonisamide n = 48, sodium valproate n = 48). Seven patients were excluded from analysis because of early dropout, leaving 89 (n = 45; n = 44) patients for analysis. While using zonisamide, six (13%) patients complained of fatigue, and two (4%) patients encountered noticeable appetite and weight loss. In the control group, five (11%) patients reported dizziness, and four (9%) patients faced obvious appetite and weight gain. Both drugs were considerably efficient in reducing further attacks. There was no statistically significant correlation between frequency or severity of migraine attacks and the drug used for treatment in three months of follow-up. CONCLUSIONS: Both medications are effective in reducing migraine attacks. It will be important to consider the drugs' adverse effects and availability and patients' medical and socioeconomic condition to select the appropriate treatment.

18.
Iran J Pharm Res ; 14(Suppl): 95-101, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26185510

RESUMO

Thalamic pain syndrome, a type of central post-stroke pain (CPSP), may develops after a hemorrhagic or ischemic stroke and results in impairment of the thalamus. There is limited experience about gabapentin in treatment of central pains like CPSP. In a prospective observational study, the intensity of pain was recorded using the Numeric Rating Scale (NRS) at the entrance to the study. Patients eligible for treating with gabapentin, received gabapentin 300 mg twice-daily. The pain intensity was measured at entrance to the study and after one month using NRS. Decrease of 3 points from the initial NRS considered being clinically significant. From a total of 180 primarily screened patients, 84 (44 men and 40 women) were recruited. There was a significant difference between pre-treatment and post-treatment NRS (5.9 ± 2.51 vs. 4.7 ± 3.01; 95% CI: 0.442-1.962, p = 0.002). Fisher's exact test showed no statistically significant effect of clinical and demographic characteristics of patients on their therapeutic response to gabapentin. Given the safety, efficacy, well tolerability and lack of interaction with other drugs we suggest gabapentin to be more considered as a first line therapy or as add-on therapy for reducing the pain severity in patients with thalamic syndrome.

19.
Iran J Child Neurol ; 9(2): 46-52, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26221163

RESUMO

OBJECTIVE: Epilepsy is a serious, potentially life-shortening brain disorder that occurs in patients of all ages and races. A total of 2-4% of people have experienced seizures at least once in their lifetime. Although treatment usually begins after a seizure, it is an important question whether the first cases of seizure do need to be treated by antiepileptic drugs. In this manner, we compare the recurrence rates of epilepsy in first seizure patients treated with sodium valproic acid as an antiepileptic drug versus a placebo. MATERIAL & METHODS: In a randomized clinical trial study, 101 first seizure patients were randomly divided into two groups: one group was treated with antiepileptic drugs (sodium valproate 200mg, three times a day) and the other group was given a placebo. The recurrence rate of seizures was evaluated and compared between the groups after 6 months of follow up. RESULTS: Eight recurrence cases were detected. All recurrence cases came from the placebo group, with four patients suffering an additional seizure after four months and between 4-6 month follow up. A comparison of recurrence rate detected a statistically significant difference between the drug group and placebo group. CONCLUSION: Our data shows that the recurrences occurred only in the placebo group with the difference between the recurrence rates in the placebo versus drug-treated was significant. Our results suggest that drug therapy for people after their first seizure attack might reduce the probability of seizure recurrence.

20.
Acta Med Iran ; 53(6): 373-5, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26069176

RESUMO

Epilepsy is one of the most common neurological disorders which a physician might come across in his career life. On the other hand, migraine is common disorders in society chronic headache such as migraine in epileptic patients give ride to difficulties in seizure treatment due to altering the sleeping pattern and calmness disarrangement. Therefore, early diagnosis and suitable treatment in epileptic patients is definitely inevitable, and it will help in a more desirable patients' treatment. So we aimed to evaluate the prevalence of migraine in epileptic patients and relation between these two disorders. Number of 150 epileptic patients attended to neurology clinic of Shohadaye Tajrish Hospital and Iranian Epilepsy Association between June 2010 to May 2011 were fulfilled the questionnaire, and the data has been assessed by SPSS software. In this study, we used MS-Q (migraine screening -questionnaire) designed for early diagnosis of migraine in the general population. From all patients filling the questionnaire, the prevalence of migraine (with or without aura) was as follows: 23 persons had criteria compatible with migraine with aura; 26 patients had migraine without aura. Migraine was more common in these patients: persons with academic degrees, women, patients who were used 2 antiepileptic drugs, and patients with high BMI. In this study, we showed that migraine in epileptic patients is more prevalent than the general population. Thus, early diagnosis and efficient treatment of migraine headache in these patients is mandatory. More studies are needed for evaluation of this issue.


Assuntos
Epilepsia/fisiopatologia , Transtornos de Enxaqueca/epidemiologia , Adolescente , Adulto , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Inquéritos e Questionários , Adulto Jovem
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